The Treatment of Cubitus Valgus Using the Ilizarov Method
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Koolen-De Vries Syndrome: Clinical Report of an Adult and Literature Review
Case Report Cytogenet Genome Res 2016;150:40–45 Accepted: July 25, 2016 DOI: 10.1159/000452724 by M. Schmid Published online: November 17, 2016 Koolen-de Vries Syndrome: Clinical Report of an Adult and Literature Review Claudia Ciaccio Chiara Dordoni Marco Ritelli Marina Colombi Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia , Italy Key Words Koolen-de Vries syndrome (KdS, also known as 17q21.31 · Deletion · Joint hypermobility · KANSL1 17q21.31 microdeletion syndrome, OMIM #610443) is a rare genetic disorder (prevalence 1/16,000) characterized by typical facial dysmorphisms, cardiac and renal defects, Abstract developmental delay, and intellectual disability of vari- Koolen-de Vries syndrome (KdS) is a rare genetic condition able level [Tan et al., 2009]. The disorder was initially de- characterized by typical facial dysmorphisms, cardiac and re- scribed as a form of mental retardation caused by a 440– nal defects, skeletal anomalies, developmental delay, and in- 680-kb deletion in the 17q21.31 region, typically encom- tellectual disability of variable level. It is caused by a 440– passing 5 genes: CRHR1 (OMIM 122561), MAPT 680-kb deletion in the 17q21.31 region, encompassing (OMIM 157140), IMP5 (OMIM 608284), STH (OMIM CRHR1 , MAPT , IMP5 , STH , and KANSL1 , or by an intragenic 607067), and KANSL1 (OMIM 612452)* [Koolen et al., KANSL1 mutation. The majority of the patients reported are 2006]. Recently,* it has been shown* that haploinsufficien- pediatric or young adults, and long-term studies able to de- cy* of KANSL1 by itself, due to single* nucleotide variants fine the prognosis of the disease are lacking. -
Phenotypic and Genotypic Characterisation of Noonan-Like
1of5 ELECTRONIC LETTER J Med Genet: first published as 10.1136/jmg.2004.024091 on 2 February 2005. Downloaded from Phenotypic and genotypic characterisation of Noonan-like/ multiple giant cell lesion syndrome J S Lee, M Tartaglia, B D Gelb, K Fridrich, S Sachs, C A Stratakis, M Muenke, P G Robey, M T Collins, A Slavotinek ............................................................................................................................... J Med Genet 2005;42:e11 (http://www.jmedgenet.com/cgi/content/full/42/2/e11). doi: 10.1136/jmg.2004.024091 oonan-like/multiple giant cell lesion syndrome (NL/ MGCLS; OMIM 163955) is a rare condition1–3 with Key points Nphenotypic overlap with Noonan’s syndrome (OMIM 163950) and cherubism (OMIM 118400) (table 1). N Noonan-like/multiple giant cell lesion syndrome (NL/ Recently, missense mutations in the PTPN11 gene on MGCLS) has clinical similarities with Noonan’s syn- chromosome 12q24.1 have been identified as the cause of drome and cherubism. It is unclear whether it is a Noonan’s syndrome in 45% of familial and sporadic cases,45 distinct entity or a variant of Noonan’s syndrome or indicating genetic heterogeneity within the syndrome. In the cherubism. 5 study by Tartaglia et al, there was a family in which three N Three unrelated patients with NL/MGCLS were char- members had features of Noonan’s syndrome; two of these acterised, two of whom were found to have mutations had incidental mandibular giant cell lesions.3 All three in the PTPN11 gene, the mutation found in 45% of members were found to have a PTPN11 mutation known to patients with Noonan’s syndrome. -
Quesid: -1 Which Bone Does Not Form the Wrist Joint 1
匀夀䰀䰀䄀䈀唀匀 䐀爀⸀ 䄀瀀甀爀瘀 䴀攀栀爀愀 QuesID: -1 Which Bone does not form the Wrist joint 1. Radius 2. Triquetrum 3. Scaphoid 4. Ulna QuesID: -2 Sunray appearance in osteosarcoma is due to: 1. Bone destruction 2. Periosteal reaction 3. Vascular calcification 4. Bone hypertrophy QuesID: -3 Most sensitive investigation for early bone infections is: (NEET DEC 2016) 1. X-ray 2. CT scan 3. Bone scan 4. USG QuesID: -4 Stress fractures are diagnosed by:(JIPMER May 2016, AIIMS May 2015, AI 2004) 1. X-ray 2. CT 3. MRI 4. Bone scan QuesID: -5 Identify the marked structure: (AI 2016) 1. Trapezium 2. Lunate 3. Trapezoid 4. Capitate QuesID: -6 Synovial Tenosynovitis of flexor tendon. What is the correct option? 1. The affected finger is extended at all joints 2. It has to be conservatively managed 3. Little finger infection can spread to thumb but not to index finger 4. Patient present with minimal pain QuesID: -7 12 years male came with swelling of lower end tibia which is surrounded by rim of reactive bone. What is most likely diagnosis? 1. GCT 2. Brodie’s Abscess 3. Hyper PTH 4. Osteomyelitis QuesID: -8 Which amongst the following occurs in immunocompetent host ? 1. GCT 2. Brodie’s Abscess 3. Hyper PTH 4. Osteomyelitis \ QuesID: -9 A child presents with fever and discharging pus from right thigh x 3 months. Following is the xray. Identify the labelled structured: 1. Sequestrum 2. Cloacae 3. Involucrum 4. Worsen Bone QuesID: -10 Tom smith septic arthritis affects? 1. Neck of infants 2. Hip joint of infants 3. -
Page 1 of 4 COPYRIGHT © by the JOURNAL of BONE and JOINT SURGERY, INCORPORATED LAMPLOT ET AL
COPYRIGHT © BY THE JOURNAL OF BONE AND JOINT SURGERY, INCORPORATED LAMPLOT ET AL. RISK OF SUBSEQUENT JOINT ARTHROPLASTY IN CONTRALATERAL OR DIFFERENT JOINT AFTER INDEX SHOULDER, HIP, OR KNEE ARTHROPLASTY http://dx.doi.org/10.2106/JBJS.17.00948 Page 1 Appendix TABLE E-1 Included Alternative Primary Diagnoses ICD-9-CM Code Diagnosis* 716.91 Arthropathy NOS, shoulder 716.95 Arthropathy NOS, pelvis 716.96 Arthropathy NOS, lower leg 719.45 Joint pain, pelvis 719.91 Joint disease NOS, shoulder *NOS = not otherwise specified. Page 1 of 4 COPYRIGHT © BY THE JOURNAL OF BONE AND JOINT SURGERY, INCORPORATED LAMPLOT ET AL. RISK OF SUBSEQUENT JOINT ARTHROPLASTY IN CONTRALATERAL OR DIFFERENT JOINT AFTER INDEX SHOULDER, HIP, OR KNEE ARTHROPLASTY http://dx.doi.org/10.2106/JBJS.17.00948 Page 2 TABLE E-2 Excluded Diagnoses* ICD-9- ICD-9- ICD-9- ICD-9- CM Code Diagnosis CM Code Diagnosis CM Code Diagnosis CM Code Diagnosis 274 Gouty arthropathy NOS 696 Psoriatic 711.03 Pyogen 711.38 Dysenter arthropathy arthritis- arthritis NEC forearm 274.01 Acute gouty arthropathy 696.1 Other psoriasis 711.04 Pyogen 711.4 Bact arthritis- arthritis-hand unspec 274.02 Chr gouty arthropathy 696.2 Parapsoriasis 711.05 Pyogen 711.46 Bact arthritis- w/o tophi arthritis-pelvis l/leg 274.03 Chr gouty arthropathy w 696.3 Pityriasis rosea 711.06 Pyogen 711.5 Viral arthritis- tophi arthritis-l/leg unspec 274.1 Gouty nephropathy NOS 696.4 Pityriasis rubra 711.07 Pyogen 711.55 Viral arthritis- pilaris arthritis-ankle pelvis 274.11 Uric acid nephrolithiasis 696.5 Pityriasis NEC & 711.08 -
Introduction to the Orthopedics
[ Color index : Important | Notes | Extra ] Editing file link Introduction to the Orthopedics Objectives: ★ To explain what Orthopedic is and what conditions will be discussed during this course ★ Explain what we mean by Red Flags ★ List the different causes of orthopedic disease. ★ Describe some of clinical examination tests ★ Introduce titles of Clinical Skills which will be taught during this course. Done by: Rana Albarrak & Lamya Alsaghan Edited By: Bedoor Julaidan Revised by: Dalal Alhuzaimi References: slides + Toronto notes + 433 team + 435 team group A Introduction Orthopedic specialty: ★ Branch of surgery concerned with conditions involving the musculoskeletal system. Orthopedic surgeons use both surgical and nonsurgical means to treat musculoskeletal trauma, spine diseases, sports injuries, degenerative diseases, infections, tumors, and congenital disorders. ★ It includes: bones, muscles, tendons, ligaments, joints, peripheral nerves (peripheral neuropathy of hand and foot), , vertebral column, spinal cord and its nerves. NOT only bones. ★ Subspecialties: General, pediatric, sport and reconstructive (commonly ACL “anterior cruciate ligament” injury), trauma, arthroplasty, spinal surgery, foot and ankle surgery, oncology, hand surgery (usually it is a mixed speciality depending on the center. Orthopedics = up to the wrist joint. Orthopedics OR plastic surgery = from carpal bones and beyond, upper limb (new) elbow & shoulder. will be discussed in details in a separate lectures Red Flags: ★ Red Flags = warning symptoms or signs = necessity for urgent or different action/intervention. ★ Should always be looked for and remembered. you have to rule out red flags with all emergency cases! Fever is NOT a red flag! Do not confuse medicine with ortho. Post-op day 1 fever is considered normal! ★ There are 5 main red flags: 1. -
Radioulnar Fusion for Forearm Defects in Children – a Salvage Procedure MN Rasool Department of Orthopaedics, Nelson R Mandela School of Medicine, Kwazulu-Natal
CLINICAL ARTICLE SA ORTHOPAEDIC JOURNAL Summer 2008 / Page 60 C LINICAL A RTICLE Radioulnar fusion for forearm defects in children – a salvage procedure MN Rasool Department of Orthopaedics, Nelson R Mandela School of Medicine, KwaZulu-Natal Reprint requests: Mr MN Rasool Department of Orthopaedics Faculty of Medicine Nelson R Mandela School of Medicine Private Bag X Congella 4013 Tel: (27) 031 260-4297 Fax: (27) 031 260-4518 E-mail: [email protected] Abstract Eight children aged 1-14 yrs with defects in the forearm were treated with the one-bone forearm procedure and followed up for 1-11 yrs. The defects were due to pyogenic osteomyelitis (n=3), osteochondroma (n=3), neurofibromatosis (n=1) and ulnar dysmelia (n=1). The radius was fixed to the ulna shaft with an intramedullary pin in six cases, and two children had centralisation of the radial metaphysis onto the ulna for “radial club hand” type deformity with Kirschner wires. All forearms united in 3-6 months. Shortening ranged from 1-10 cm. Fixed flexion deformity of the elbow (20°) resulted in one child and cubitus valgus (20°) occurred in another. One child had a radial articular tilt of 45°. The procedure achieved stability at the wrist and elbow. There was cosmetic and functional improvement in all patients. Introduction loss of elbow rotation. Rotation at the shoulder compen- 1-3 The treatment of forearm defects in children is challeng- sates for this adequately. Correction of the deviation of ing. When one growing forearm bone is destroyed by dis- the hand on a solid forearm gives a much stronger grip, ease, develops imperfectly or abnormally, secondary and improves elbow and wrist movements. -